Photo by hugo_cmt from unsplash
Homozygous or compound heterozygous pathogenic variants in the thromboxane A synthase 1 (TBXAS1) gene are associated with Ghosal hematodiaphyseal dysplasia (GHDD) which is characterized by defective hematopoiesis and increased bone… Click to show full abstract
Homozygous or compound heterozygous pathogenic variants in the thromboxane A synthase 1 (TBXAS1) gene are associated with Ghosal hematodiaphyseal dysplasia (GHDD) which is characterized by defective hematopoiesis and increased bone density of long bones.
Keywords:
novel compound;
compound heterozygous;
hematodiaphyseal dysplasia;
ghosal hematodiaphyseal
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2021
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2021
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!